Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Glanzmann thrombasthenia
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_3382
ageOfOnset	Neonatal/infancy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Glanzmann+thrombasthenia
id_MIM	187800 273800
id_OMS	D69.1
id_Orpha	849
id_SNOMEDCT	32942005
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_3382
prefLabel	Glanzmann thrombasthenia
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61249	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0100326	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100326	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100326	DOVES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Glanzmann_Thrombasthenia	CSEO	LOOM
http://www.orpha.net/ORDO/Orphanet_849	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU009114	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C61249	BERO	LOOM
http://identifiers.org/omim/273800	REXO	LOOM
http://identifiers.org/omim/273800	GEXO	LOOM
http://identifiers.org/omim/273800	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_273800	CCO	LOOM